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Oct 14, 2008 (publication date) through Feb 15, 2025
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World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L. High frequency of the c.3207C>A (p.H1069Q) mutation in |
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| URL: | https://www.wjgnet.com/1007-9327/full/v14/i38/5876.htm |
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Michael L. Schilsky, Aftab Ala. Genetic Testing for Wilson Disease: Availability and Utility. Current Gastroenterology Reports 2010; 12(1): 57 doi: 10.1007/s11894-009-0084-5
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| 2 |
Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. Journal of Genetics 2017; 96(6): 933 doi: 10.1007/s12041-017-0857-9
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| 3 |
Jussi O.T. Sipilä, Laura Kytövuori, Valtteri Kaasinen. Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease. Journal of the Neurological Sciences 2023; 448: 120620 doi: 10.1016/j.jns.2023.120620
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Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse. Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease. Molecular Genetics & Genomic Medicine 2017; 5(4): 405 doi: 10.1002/mgg3.297
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Julnar Usta, Hussein Abu Daya, Houssam Halawi, Ibraheem Al-Shareef, Omar El-Rifai, Ahmad H. Malli, Ala I. Sharara, Robert H. Habib, Kassem Barada. JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports 2011; 4: 129 doi: 10.1007/8904_2011_91
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Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Michał Schinwelski, Mariusz Siemiński, Jarosław Sławek, Cezary Zekanowski. A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes. Genes 2022; 13(12): 2361 doi: 10.3390/genes13122361
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Kassem Barada, Mazen El-Atrache, Ihab I. El-Hajj, Khaled Rida, Jida El-Hajjar, Ziyad Mahfoud, Julnar Usta. Homozygous Mutations in the Conserved ATP Hinge Region of the Wilson Disease Gene. Journal of Clinical Gastroenterology 2010; 44(6): 432 doi: 10.1097/MCG.0b013e3181ce5138
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Violeta Mihaylova, Teodor Todorov, Hristo Jelev, Iskren Kotsev, Ludmila Angelova, Olga Kosseva, Georgi Georgiev, Ralica Ganeva, Silvia Cherninkova, Ludmila Tankova, Aleksei Savov, Ivailo Tournev. Neurological Symptoms, Genotype-Phenotype Correlations and Ethnic-specific Differences in Bulgarian Patients With Wilson Disease. The Neurologist 2012; 18(4): 184 doi: 10.1097/NRL.0b013e31825cf3b7
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Hartmut H.-J. Schmidt. Role of genotyping in Wilson’s disease. Journal of Hepatology 2009; 50(3): 449 doi: 10.1016/j.jhep.2008.11.008
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Jason L. Burkhead, Lawrence W. Gray, Svetlana Lutsenko. Systems biology approach to Wilson’s disease. BioMetals 2011; 24(3): 455 doi: 10.1007/s10534-011-9430-9
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Peter Ferenci. Clinical and Translational Perspectives on WILSON DISEASE. 2019; : 305 doi: 10.1016/B978-0-12-810532-0.00028-8
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Diagnostic Imaging: Musculoskeletal Non-Traumatic Disease. 2016; : 134 doi: 10.1016/B978-0-323-39252-5.50036-6
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| 13 |
New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease. European Journal of Medical Genetics 2014; 57(9): 498 doi: 10.1016/j.ejmg.2014.04.016
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| 14 |
Fei Wu, Jing Wang, Chunwen Pu, Liang Qiao, Chunmeng Jiang. Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms. International Journal of Molecular Sciences 2015; 16(3): 6419 doi: 10.3390/ijms16036419
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